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Aliases for KLHL40 Gene

Aliases for KLHL40 Gene

  • Kelch Like Family Member 40 2 3 5
  • Sarcosynapsin 2 3 4
  • Kelch Repeat And BTB Domain-Containing Protein 5 3 4
  • Kelch Repeat And BTB (POZ) Domain Containing 5 2 3
  • Nemaline Myopathy Type 8 2 3
  • KBTBD5 3 4
  • SRYP 3 4
  • Kelch-Like 40 (Drosophila) 2
  • Kelch-Like Protein 40 3
  • NEM8 3
  • SYRP 3

External Ids for KLHL40 Gene

Previous HGNC Symbols for KLHL40 Gene

  • KBTBD5

Summaries for KLHL40 Gene

Entrez Gene Summary for KLHL40 Gene

  • This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]

GeneCards Summary for KLHL40 Gene

KLHL40 (Kelch Like Family Member 40) is a Protein Coding gene. Diseases associated with KLHL40 include Nemaline Myopathy 8, Autosomal Recessive and Severe Congenital Nemaline Myopathy. An important paralog of this gene is KLHL41.

UniProtKB/Swiss-Prot for KLHL40 Gene

  • Required for skeletal muscle development.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL40 Gene

Genomics for KLHL40 Gene

Regulatory Elements for KLHL40 Gene

Enhancers for KLHL40 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F042695 0.5 FANTOM5 1.9 +10.0 10049 0.6 ZNF146 HHATL CCDC13-AS1 CCDC13 FAM198A ZNF662 KLHL40 HHATL-AS1
GH03F042700 1.2 Ensembl ENCODE 0.3 +16.7 16693 2.5 PKNOX1 ZFP64 ARID4B SIN3A ZNF2 ZNF48 SLC30A9 ZNF143 KLF13 DEK SEC22C POMGNT2 SNRK-AS1 HHATL HHATL-AS1 KLHL40
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLHL40 on UCSC Golden Path with GeneCards custom track

Promoters for KLHL40 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001847196 681 400 SMARCA4 RNF2 ZNF512

Genomic Location for KLHL40 Gene

42,685,519 bp from pter
42,692,544 bp from pter
7,026 bases
Plus strand

Genomic View for KLHL40 Gene

Genes around KLHL40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL40 Gene

Proteins for KLHL40 Gene

  • Protein details for KLHL40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Kelch-like protein 40
    Protein Accession:
    Secondary Accessions:
    • Q86SI1
    • Q96MR2

    Protein attributes for KLHL40 Gene

    621 amino acids
    Molecular mass:
    69257 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for KLHL40 Gene

    Alternative splice isoforms for KLHL40 Gene


neXtProt entry for KLHL40 Gene

Post-translational modifications for KLHL40 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KLHL40 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLHL40 Gene

Domains & Families for KLHL40 Gene

Gene Families for KLHL40 Gene

Suggested Antigen Peptide Sequences for KLHL40 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 5 Kelch repeats.
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 1 BTB (POZ) domain.
  • Contains 5 Kelch repeats.
genes like me logo Genes that share domains with KLHL40: view

Function for KLHL40 Gene

Molecular function for KLHL40 Gene

UniProtKB/Swiss-Prot Function:
Required for skeletal muscle development.

Gene Ontology (GO) - Molecular Function for KLHL40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
genes like me logo Genes that share ontologies with KLHL40: view
genes like me logo Genes that share phenotypes with KLHL40: view

Human Phenotype Ontology for KLHL40 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KLHL40 Gene

MGI Knock Outs for KLHL40:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KLHL40 Gene

Localization for KLHL40 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL40 Gene

Cytoplasm, myofibril, sarcomere, A band.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLHL40 gene
Compartment Confidence
cytosol 3
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KLHL40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
GO:0031672 A band IEA,IBA --
GO:0031674 I band IBA --
genes like me logo Genes that share ontologies with KLHL40: view

Pathways & Interactions for KLHL40 Gene

SuperPathways for KLHL40 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KLHL40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0016567 protein ubiquitination IEA --
GO:0031397 negative regulation of protein ubiquitination IBA --
GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process IBA --
GO:0048741 skeletal muscle fiber development IBA --
genes like me logo Genes that share ontologies with KLHL40: view

No data available for Pathways by source and SIGNOR curated interactions for KLHL40 Gene

Transcripts for KLHL40 Gene

mRNA/cDNA for KLHL40 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KLHL40 Gene

Kelch-like family member 40:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL40 Gene

No ASD Table

Relevant External Links for KLHL40 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KLHL40 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KLHL40 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLHL40 Gene

This gene is overexpressed in Muscle - Skeletal (x50.6).

Protein differential expression in normal tissues from HIPED for KLHL40 Gene

This gene is overexpressed in Esophagus (54.2) and Neutrophil (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KLHL40 Gene

Protein tissue co-expression partners for KLHL40 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KLHL40 Gene:


SOURCE GeneReport for Unigene cluster for KLHL40 Gene:


mRNA Expression by UniProt/SwissProt for KLHL40 Gene:

Tissue specificity: Highly expressed in fetal (19, 23 and 31 weeks of gestation) and adult skeletal muscle; expression levels tend to be higher in fetal compared to postnatal muscles (at protein level). Aslo expressed in fetal and adult heart.
genes like me logo Genes that share expression patterns with KLHL40: view

Primer Products

Orthologs for KLHL40 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHL40 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KLHL40 35
  • 100 (a)
(Bos Taurus)
Mammalia KBTBD5 34 35
  • 89.57 (n)
(Canis familiaris)
Mammalia KLHL40 34 35
  • 89.1 (n)
(Mus musculus)
Mammalia Klhl40 34 16 35
  • 86.75 (n)
(Rattus norvegicus)
Mammalia Klhl40 34
  • 86.06 (n)
(Ornithorhynchus anatinus)
Mammalia KLHL40 35
  • 83 (a)
(Monodelphis domestica)
Mammalia KLHL40 35
  • 77 (a)
(Gallus gallus)
Aves KLHL40 35
  • 71 (a)
  • 70.77 (n)
(Anolis carolinensis)
Reptilia -- 35
  • 69 (a)
-- 35
  • 65 (a)
-- 35
  • 63 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl40 34
  • 66.72 (n)
(Danio rerio)
Actinopterygii klhl40a 34 35
  • 61.89 (n)
klhl40b 35
  • 57 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 22 (a)
Species where no ortholog for KLHL40 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KLHL40 Gene

Gene Tree for KLHL40 (if available)
Gene Tree for KLHL40 (if available)

Paralogs for KLHL40 Gene

Paralogs for KLHL40 Gene

(3) SIMAP similar genes for KLHL40 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KLHL40: view

Variants for KLHL40 Gene

Sequence variations from dbSNP and Humsavar for KLHL40 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs201856772 Nemaline myopathy 8 (NEM8) [MIM:615348] 42,691,889(+) ATAAC(A/G)AGGAG reference, missense
rs367579275 Nemaline myopathy 8 (NEM8) [MIM:615348], Pathogenic 42,688,701(+) TTGGC(A/G/T)GCAAA reference, missense
rs397509419 Nemaline myopathy 8 (NEM8) [MIM:615348], Pathogenic 42,689,029(+) CTGCC(A/G)AAGTG reference, missense
rs397509420 Nemaline myopathy 8 (NEM8) [MIM:615348], Pathogenic 42,686,220(+) GCGGT(A/G/T)GGCGG reference, missense, stop-gained
rs397509421 Nemaline myopathy 8 (NEM8) [MIM:615348], Pathogenic 42,690,863(+) GGTGG(A/C/G)CACCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KLHL40 Gene

Variant ID Type Subtype PubMed ID
nsv954472 CNV deletion 24416366

Variation tolerance for KLHL40 Gene

Residual Variation Intolerance Score: 69.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.44; 54.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLHL40 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL40 Gene

Disorders for KLHL40 Gene

MalaCards: The human disease database

(8) MalaCards diseases for KLHL40 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nemaline myopathy 8, autosomal recessive
  • nemaline myopathy 8
severe congenital nemaline myopathy
  • severe congenital nm
klhl40-related nemaline myopathy
  • nem8, nemaline myopathy 8
nemaline myopathy
  • nemaline body disease
locked-in syndrome
  • locked in syndrome
- elite association - COSMIC cancer census association via MalaCards


  • Nemaline myopathy 8 (NEM8) [MIM:615348]: A severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM8 is characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils. {ECO:0000269 PubMed:23746549}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KLHL40

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with KLHL40: view

No data available for Genatlas for KLHL40 Gene

Publications for KLHL40 Gene

  1. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. (PMID: 23746549) Ravenscroft G. … Laing N.G. (Am. J. Hum. Genet. 2013) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. (PMID: 25192599) Wang T. … Xu J. (Neurobiol. Aging 2015) 3 64
  5. KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. (PMID: 24960163) Garg A. … Olson E.N. (J. Clin. Invest. 2014) 3 64

Products for KLHL40 Gene

Sources for KLHL40 Gene

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